Journal article
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation
Abstract
Identification of over 500 epigenetic regulators in humans raises an interesting question regarding how chromatin dysregulation contributes to different diseases. Bromodomain and PHD finger-containing protein 1 (BRPF1) is a multivalent chromatin regulator possessing three histone-binding domains, one non-specific DNA-binding module, and several motifs for interacting with and activating three lysine acetyltransferases. Genetic analyses of fish …
Authors
Yan K; Rousseau J; Littlejohn RO; Kiss C; Lehman A; Rosenfeld JA; Stumpel CTR; Stegmann APA; Robak L; Scaglia F
Journal
American Journal of Human Genetics, Vol. 100, No. 1, pp. 91–104
Publisher
Elsevier
Publication Date
1 2017
DOI
10.1016/j.ajhg.2016.11.011
ISSN
0002-9297
Fields of Research (FoR)
Medical Subject Headings (MeSH)
AcetylationAdaptor Proteins, Signal TransducingAdolescentAllelesAnimalsCarrier ProteinsChildChromatinDNA-Binding ProteinsDevelopmental DisabilitiesFaceFemaleHistone AcetyltransferasesHistonesHumansIntellectual DisabilityLysineMaleMiceMice, Inbred C57BLMice, KnockoutMuscle HypotoniaMutationNuclear ProteinsSyndrome